Glutaric Acidemia Type II

Common Name(s)

Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting. GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet.

Advocacy and Support Organizations

Condition Specific Organizations

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

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Advocacy and Support Organizations

Condition Specific Organizations

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

General Support Organizations

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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

Finding the right clinical trial for Glutaric Acidemia Type II can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Glutaric Acidemia Type II" returned 4 free, full-text research articles on human participants.
First 3 results:

In our previous study of eight glutaric acidemia type II (GAII) fibroblast lines by using [35S]methionine labeling and immunoprecipitation, three of them had a defect in the synthesis of the alpha-subunit of electron transfer flavoprotein (alpha-ETF) (Ikeda et al. 1986). In one of ...

Glutaric acidemia type II (GA II) is a human genetic disorder. It has been suggested that the primary defect in this disorder is a deficiency of a protein involved in electron transport between the acyl-CoA dehydrogenases and the bc1 complex of the mitochondrial respiratory chain. ...

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Glutaric Acidemia Type II" returned 0 free, full-text review articles on human participants.

No free, full-text review articles on human participants are available at this time.
Please click this link to visit the PubMed website for results on "Glutaric Acidemia Type II".

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Glutaric Acidemia Type II" (open studies are recruiting volunteers) and 1 "Glutaric Acidemia Type II" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Glutaric Acidemia Type II can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.